Varaico: Literature-Extracted Genetic Variants

PKHD1

1,102 papers

RefSeq Summary

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing...

Pfam Domains

TIGaa 259–335UCSCIPT/TIG domain

TIGaa 931–1012UCSCIPT/TIG domain

TIGaa 1019–1102UCSCIPT/TIG domain

TIGaa 1108–1192UCSCIPT/TIG domain

TIGaa 1197–1278UCSCIPT/TIG domain

TIGaa 1389–1480UCSCIPT/TIG domain

Gene Aliases

HGNC Name

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

HGNC Previous Symbol

TIGM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138694.4

p.G448V

c.1343G>T

Surrounding Variants

8 papers

NM_138694.4

p.G448R

c.1342G>C

1 paper

NM_138694.4

p.L446V

c.1336C>G

1 paper

NM_138694.4

p.E445*

c.1333G>T

1 paper

NM_138694.4

p.G449_Y453Fs

c.1347_1357delinsACCFs

1 paper

NM_138694.4

p.K440N

c.1320G>T

1 paper

NM_138694.4

p.Q439delFs

c.1317delC

1 paper

NM_138694.4

p.W437_Q439delFs

c.1310_1317del8

2 papers

NM_138694.4

p.E457D

c.1371G>T

2 papers

NM_138694.4

p.E457D

c.1371G>C

1 paper

NM_138694.4

p.Q438Q

c.1314G>A

1 paper

NM_138694.4

p.Q438K

c.1312C>A

1 paper

NM_138694.4

p.W437*

c.1311G>A